Varaico: Literature-Extracted Genetic Variants

CHRNA9

54 papers

RefSeq Summary

This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalen...

Pfam Domains

Neur_chan_LBDaa 31–237UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 244–475UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 9 subunit

HGNC Alias Symbol

NACHRA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017581.4

p.A312T

c.934G>A

Surrounding Variants

6 papers

NM_017581.4

p.A315V

c.944C>T

1 paper

NM_017581.4

p.R331W

c.991C>T

1 paper

NM_017581.4

p.P334S

c.1000C>T

1 paper

NM_017581.4

p.H335Q

c.1005C>A

1 paper

NM_017581.4

p.H335Q

c.1005C>G

2 papers

NM_017581.4

p.R399C

c.1195C>T

1 paper

NM_017581.4

p.R399H

c.1196G>A

1 paper

NM_017581.4

p.A432T

c.1294G>A

1 paper

NM_017581.4

p.K436N

c.1308A>C

1 paper

NM_017581.4

p.K436N

c.1308A>T

2 papers

NM_017581.4

p.D437E

c.1311C>A

1 paper

NM_017581.4

p.D437E

c.1311C>G